Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.

IF 2.6 4区医学 Q2 OPHTHALMOLOGY

Documenta Ophthalmologica Pub Date : 2023-06-01 DOI:10.1007/s10633-023-09924-z

Thiago Gonçalves Dos Santos Martins, Ana Luiza Fontes de Azevedo Costa, Sérgio Luís Gianotti Pimentel, Maria Kiyoko Oyamada, Simone Finzi

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Abstract

Purpose: To describe a case of retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.

Methods: Fundus photography, total field electroretinogram, ultrasound, computerized visual field examination, biochemical examination and genetic testing were obtained.

Results: The fundus exam showed diffuse arteriolar attenuation, optic disc with regular contours, and pigment agglomerates like "bone spicules" in the middle periphery. Ultrasound examination revealed scleral thickening and short axial diameter in both eyes. The total field electroretinogram exam showed a subnormal result with greater impairment of the scotopic phase of the exam. Computerized visual field examination demonstrated a diffuse reduction in retinal sensitivity in the periphery. Biochemical examination showed increased urine glycosaminoglycan excretion and iduronate-2-sulphatase activity (IDS) deficiency in leukocytes, confirming the type II mucopolysaccharidosis. Molecular analysis revealed a novel missense mutation (p.A77D) in the IDS gene.

Conclusion: The case report is about a patient presented an attenuated form of the syndrome, with no cognitive impairment. Ophthalmologic follow-up is still an important part of multidisciplinary treatment for Hunter's syndrome.

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色素性视网膜炎合并纳米眼1例减毒型亨特氏综合征。

目的:报告1例色素性视网膜炎合并纳米眼的减毒亨特氏综合征患者。方法:眼底摄影、全场视网膜电图、超声、计算机视野检查、生化检查和基因检测。结果:眼底检查示弥漫性小动脉衰减，视盘轮廓规则，中周可见“骨针”样色素凝聚。超声检查显示双眼巩膜增厚、轴径短。全视场视网膜电图检查显示亚正常结果，暗位相损伤更大。计算机视野检查显示周围视网膜敏感性弥漫性降低。生化检查显示尿糖胺聚糖排泄量增加，白细胞依杜醛酸-2-硫酸酯酶活性(IDS)缺乏，确认为II型粘多糖病。分子分析显示，在IDS基因中存在一个新的错义突变(p.A77D)。结论:病例报告是关于一个病人提出了一个减轻形式的综合征，没有认知障碍。眼科随访仍是亨特氏综合征多学科治疗的重要组成部分。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Documenta Ophthalmologica 医学-眼科学

CiteScore

3.50

自引率

21.40%

发文量

审稿时长

>12 weeks

期刊介绍： Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).